Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.85270728A>CCA340951477BCL10c.236T>G (p.Leu79Arg)
n.302T>G
n.767T>G
c.395T>G (p.Leu132Arg)
c.182T>G (p.Leu61Arg)
1g.85270728A>GCA340951479BCL10c.236T>C (p.Leu79Pro)
n.302T>C
n.767T>C
c.395T>C (p.Leu132Pro)
c.182T>C (p.Leu61Pro)
1g.85270728A>TCA340951481BCL10c.236T>A (p.Leu79Gln)
n.302T>A
n.767T>A
c.395T>A (p.Leu132Gln)
c.182T>A (p.Leu61Gln)
1g.85270729G>ACA418704353BCL10c.235C>T (p.Leu79=)
n.301C>T
n.766C>T
c.394C>T (p.Leu132=)
c.181C>T (p.Leu61=)
1g.85270729G>CCA340951484BCL10c.235C>G (p.Leu79Val)
n.301C>G
n.766C>G
c.394C>G (p.Leu132Val)
c.181C>G (p.Leu61Val)
1g.85270729G>TCA340951486BCL10c.235C>A (p.Leu79Met)
n.301C>A
n.766C>A
c.394C>A (p.Leu132Met)
c.181C>A (p.Leu61Met)
COSMIC
1g.85270730A>CCA418704355BCL10c.234T>G (p.Gly78=)
n.300T>G
n.765T>G
c.393T>G (p.Gly131=)
c.180T>G (p.Gly60=)
1g.85270730A>GCA418704356BCL10c.234T>C (p.Gly78=)
n.300T>C
n.765T>C
c.393T>C (p.Gly131=)
c.180T>C (p.Gly60=)
1g.85270730A>TCA418704357BCL10c.234T>A (p.Gly78=)
n.300T>A
n.765T>A
c.393T>A (p.Gly131=)
c.180T>A (p.Gly60=)
1g.85270731C>ACA340951489BCL10c.233G>T (p.Gly78Val)
n.299G>T
n.764G>T
c.392G>T (p.Gly131Val)
c.179G>T (p.Gly60Val)
gnomAD v4
1g.85270731C>GCA340951493BCL10c.233G>C (p.Gly78Ala)
n.299G>C
n.764G>C
c.392G>C (p.Gly131Ala)
c.179G>C (p.Gly60Ala)
1g.85270731C>TCA340951491BCL10c.233G>A (p.Gly78Asp)
n.299G>A
n.764G>A
c.392G>A (p.Gly131Asp)
c.179G>A (p.Gly60Asp)
1g.85270732C>ACA340951497BCL10c.232G>T (p.Gly78Cys)
n.298G>T
n.763G>T
c.391G>T (p.Gly131Cys)
c.178G>T (p.Gly60Cys)
1g.85270732C=CA2476012546BCL10c.232G= (p.Gly78=)
n.298G=
n.763G=
c.391G= (p.Gly131=)
c.178G= (p.Gly60=)
1g.85270732C>GCA340951499BCL10c.232G>C (p.Gly78Arg)
n.298G>C
n.763G>C
c.391G>C (p.Gly131Arg)
c.178G>C (p.Gly60Arg)
1g.85270732C>TCA340951501BCL10c.232G>A (p.Gly78Ser)
n.298G>A
n.763G>A
c.391G>A (p.Gly131Ser)
c.178G>A (p.Gly60Ser)
1g.85270733T>ACA340951503BCL10c.231A>T (p.Lys77Asn)
n.297A>T
n.762A>T
c.390A>T (p.Lys130Asn)
c.177A>T (p.Lys59Asn)
1g.85270733T>CCA418704359BCL10c.231A>G (p.Lys77=)
n.297A>G
n.762A>G
c.390A>G (p.Lys130=)
c.177A>G (p.Lys59=)
1g.85270733T>GCA340951505BCL10c.231A>C (p.Lys77Asn)
n.297A>C
n.762A>C
c.390A>C (p.Lys130Asn)
c.177A>C (p.Lys59Asn)
1g.85270733_85270736delinsTTTTCA1148224397BCL10c.228_231delinsAAAA (p.Pro76=)
n.294_297delinsAAAA
n.759_762delinsAAAA
c.387_390delinsAAAA (p.Pro129=)
c.174_177delinsAAAA (p.Pro58=)
1g.85270736dupCA212592BCL10c.231dup (p.Gly78ArgfsTer7)
n.297dup
n.762dup
c.390dup (p.Gly131ArgfsTer7)
c.177dup (p.Gly60ArgfsTer7)
ClinVar dbSNP
1g.85270734T>ACA340951508BCL10c.230A>T (p.Lys77Ile)
n.296A>T
n.761A>T
c.389A>T (p.Lys130Ile)
c.176A>T (p.Lys59Ile)
1g.85270734T>CCA340951510BCL10c.230A>G (p.Lys77Arg)
n.296A>G
n.761A>G
c.389A>G (p.Lys130Arg)
c.176A>G (p.Lys59Arg)
1g.85270734T>GCA340951512BCL10c.230A>C (p.Lys77Thr)
n.296A>C
n.761A>C
c.389A>C (p.Lys130Thr)
c.176A>C (p.Lys59Thr)
1g.85270735T>ACA340951515BCL10c.229A>T (p.Lys77Ter)
n.295A>T
n.760A>T
c.388A>T (p.Lys130Ter)
c.175A>T (p.Lys59Ter)
1g.85270735T>CCA340951517BCL10c.229A>G (p.Lys77Glu)
n.295A>G
n.760A>G
c.388A>G (p.Lys130Glu)
c.175A>G (p.Lys59Glu)
dbSNP gnomAD v2 gnomAD v4
1g.85270735T>GCA340951519BCL10c.229A>C (p.Lys77Gln)
n.295A>C
n.760A>C
c.388A>C (p.Lys130Gln)
c.175A>C (p.Lys59Gln)
1g.85270735T=CA2476012547BCL10c.229A= (p.Lys77=)
n.295A=
n.760A=
c.388A= (p.Lys130=)
c.175A= (p.Lys59=)
1g.85270736T>ACA418704365BCL10c.228A>T (p.Pro76=)
n.294A>T
n.759A>T
c.387A>T (p.Pro129=)
c.174A>T (p.Pro58=)
1g.85270736T>CCA25621868BCL10c.228A>G (p.Pro76=)
n.294A>G
n.759A>G
c.387A>G (p.Pro129=)
c.174A>G (p.Pro58=)
dbSNP gnomAD v4
1g.85270736T>GCA418704366BCL10c.228A>C (p.Pro76=)
n.294A>C
n.759A>C
c.387A>C (p.Pro129=)
c.174A>C (p.Pro58=)
1g.85270736T=CA2476012548BCL10c.228A= (p.Pro76=)
n.294A=
n.759A=
c.387A= (p.Pro129=)
c.174A= (p.Pro58=)
1g.85270737G>ACA340951520BCL10c.227C>T (p.Pro76Leu)
n.293C>T
n.758C>T
c.386C>T (p.Pro129Leu)
c.173C>T (p.Pro58Leu)
1g.85270737G>CCA340951525BCL10c.227C>G (p.Pro76Arg)
n.293C>G
n.758C>G
c.386C>G (p.Pro129Arg)
c.173C>G (p.Pro58Arg)
1g.85270737G>TCA340951523BCL10c.227C>A (p.Pro76Gln)
n.293C>A
n.758C>A
c.386C>A (p.Pro129Gln)
c.173C>A (p.Pro58Gln)
1g.85270738G>ACA340951528BCL10c.226C>T (p.Pro76Ser)
n.292C>T
n.757C>T
c.385C>T (p.Pro129Ser)
c.172C>T (p.Pro58Ser)
gnomAD v4
1g.85270738G>CCA340951537BCL10c.226C>G (p.Pro76Ala)
n.292C>G
n.757C>G
c.385C>G (p.Pro129Ala)
c.172C>G (p.Pro58Ala)
1g.85270738G>TCA340951534BCL10c.226C>A (p.Pro76Thr)
n.292C>A
n.757C>A
c.385C>A (p.Pro129Thr)
c.172C>A (p.Pro58Thr)
1g.85270739G>ACA418704369BCL10c.225C>T (p.Asn75=)
n.291C>T
n.756C>T
c.384C>T (p.Asn128=)
c.171C>T (p.Asn57=)
dbSNP gnomAD v4
1g.85270739G>CCA340951539BCL10c.225C>G (p.Asn75Lys)
n.291C>G
n.756C>G
c.384C>G (p.Asn128Lys)
c.171C>G (p.Asn57Lys)
1g.85270739G=CA2476012549BCL10c.225C= (p.Asn75=)
n.291C=
n.756C=
c.384C= (p.Asn128=)
c.171C= (p.Asn57=)
1g.85270739G>TCA340951542BCL10c.225C>A (p.Asn75Lys)
n.291C>A
n.756C>A
c.384C>A (p.Asn128Lys)
c.171C>A (p.Asn57Lys)
1g.85270740T>ACA340951544BCL10c.224A>T (p.Asn75Ile)
n.290A>T
n.755A>T
c.383A>T (p.Asn128Ile)
c.170A>T (p.Asn57Ile)
1g.85270740T>CCA340951546BCL10c.224A>G (p.Asn75Ser)
n.290A>G
n.755A>G
c.383A>G (p.Asn128Ser)
c.170A>G (p.Asn57Ser)
1g.85270740T>GCA340951548BCL10c.224A>C (p.Asn75Thr)
n.290A>C
n.755A>C
c.383A>C (p.Asn128Thr)
c.170A>C (p.Asn57Thr)
1g.85270741T>ACA340951551BCL10c.223A>T (p.Asn75Tyr)
n.289A>T
n.754A>T
c.382A>T (p.Asn128Tyr)
c.169A>T (p.Asn57Tyr)
1g.85270741T>CCA340951553BCL10c.223A>G (p.Asn75Asp)
n.289A>G
n.754A>G
c.382A>G (p.Asn128Asp)
c.169A>G (p.Asn57Asp)
1g.85270741T>GCA25621869BCL10c.223A>C (p.Asn75His)
n.289A>C
n.754A>C
c.382A>C (p.Asn128His)
c.169A>C (p.Asn57His)
dbSNP
1g.85270741T=CA2476012550BCL10c.223A= (p.Asn75=)
n.289A=
n.754A=
c.382A= (p.Asn128=)
c.169A= (p.Asn57=)
1g.85270742T>ACA340951557BCL10c.222A>T (p.Glu74Asp)
n.288A>T
n.753A>T
c.381A>T (p.Glu127Asp)
c.168A>T (p.Glu56Asp)

Number of alleles fetched